Variant report

Variant	rs551011239
Chromosome Location	chr5:177099239-177099240
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF3	chr5:177098690-177099734	GM12878	blood:	n/a	chr5:177099436-177099446
2	POLR2A	chr5:177099069-177099274	K562	blood:	n/a	n/a
3	EGR1	chr5:177099052-177099277	K562	blood:	n/a	chr5:177099242-177099256 chr5:177099182-177099196 chr5:177099227-177099241
4	HEY1	chr5:177098841-177099256	K562	blood:	n/a	n/a
5	POLR2A	chr5:177098918-177099248	MCF-7	breast:	n/a	n/a
6	HEY1	chr5:177098972-177099283	HepG2	liver:	n/a	n/a
7	POLR2A	chr5:177099056-177099243	H1-hESC	embryonic stem cell:	n/a	n/a
8	EGR1	chr5:177099146-177099304	MCF-7	breast:	n/a	chr5:177099242-177099256 chr5:177099182-177099196 chr5:177099227-177099241
9	EGR1	chr5:177099108-177099265	K562	blood:	n/a	chr5:177099242-177099256 chr5:177099182-177099196 chr5:177099227-177099241
10	POLR2A	chr5:177098314-177099549	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr5:177098992-177099275	GM12878	blood:	n/a	n/a
12	POLR2A	chr5:177099078-177099273	A549	lung:	n/a	n/a
13	POLR2A	chr5:177099058-177099274	HCT-116	colon:	n/a	n/a
14	POLR2A	chr5:177098933-177099342	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr5:177097700-177099900	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr5:177098445-177099499	MCF-7	breast:	n/a	n/a
17	MAZ	chr5:177099129-177099248	K562	blood:	n/a	n/a
18	YY1	chr5:177099091-177099259	K562	blood:	n/a	n/a
19	POLR2A	chr5:177098919-177099255	ProgFib	skin:	n/a	n/a
20	TAF1	chr5:177098412-177099675	H1-hESC	embryonic stem cell:	n/a	n/a
21	EGR1	chr5:177099109-177099332	GM12878	blood:	n/a	chr5:177099242-177099256 chr5:177099182-177099196 chr5:177099227-177099241
22	EGR1	chr5:177099117-177099250	GM12878	blood:	n/a	chr5:177099182-177099196 chr5:177099227-177099241
23	POLR2A	chr5:177099150-177099310	H1-neurons	neurons:	n/a	n/a
24	TCF12	chr5:177098715-177099274	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:177098763-177099270	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr5:177098831-177099365	A549	lung:	n/a	n/a
27	POLR2A	chr5:177097966-177099405	GM12892	blood:	n/a	n/a
28	EGR1	chr5:177099114-177099355	HCT-116	colon:	n/a	chr5:177099242-177099256 chr5:177099182-177099196 chr5:177099227-177099241
29	POLR2A	chr5:177099047-177099342	ECC-1	luminal epithelium:	n/a	n/a
30	EP300	chr5:177099102-177099351	SK-N-SH	brain:	n/a	chr5:177099325-177099341
31	E2F6	chr5:177099063-177099257	K562	blood:	n/a	n/a
32	POLR2A	chr5:177098970-177099249	MCF-7	breast:	n/a	n/a
33	UBTF	chr5:177099110-177099246	K562	blood:	n/a	n/a
34	POLR2A	chr5:177098905-177099286	SK-N-MC	brain:	n/a	n/a
35	POLR2A	chr5:177099079-177099280	A549	lung:	n/a	n/a
36	POLR2A	chr5:177099081-177099246	A549	lung:	n/a	n/a
37	TAF1	chr5:177098428-177099257	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr5:177098438-177099259	H1-hESC	embryonic stem cell:	n/a	n/a
39	ELF1	chr5:177098935-177099373	GM12878	blood:	n/a	chr5:177098961-177098973 chr5:177099325-177099337
40	POLR2A	chr5:177098905-177099251	Gliobla	brain:	n/a	n/a
41	PAX5	chr5:177098886-177099250	GM12878	blood:	n/a	n/a
42	EGR1	chr5:177099150-177099310	ECC-1	luminal epithelium:	n/a	chr5:177099242-177099256 chr5:177099182-177099196 chr5:177099227-177099241
43	POLR2A	chr5:177098417-177099585	GM12878	blood:	n/a	n/a
44	POLR2A	chr5:177098917-177099254	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000246596	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
2	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv969021	chr5:177060702-177111251	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3343343	chr5:177097871-177100719	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
6	esv3385471	chr5:177098196-177106694	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177097400-177099600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
2	chr5:177097400-177100600	Weak transcription	Primary B cells from cord blood	blood
3	chr5:177098200-177099400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr5:177098200-177099400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:177098200-177099400	Active TSS	Fetal Muscle Leg	muscle
6	chr5:177098200-177099400	Active TSS	Left Ventricle	heart
7	chr5:177098200-177099400	Active TSS	Pancreas	Pancrea
8	chr5:177098200-177099400	Active TSS	Psoas Muscle	Psoas
9	chr5:177098200-177099600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:177098200-177099600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:177098200-177099600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:177098200-177099600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:177098200-177099600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:177098200-177099600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:177098200-177099600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:177098200-177099600	Active TSS	Brain Germinal Matrix	brain
17	chr5:177098200-177099600	Active TSS	Fetal Stomach	stomach
18	chr5:177098200-177099600	Active TSS	Ovary	ovary
19	chr5:177098200-177099600	Active TSS	HSMM	muscle
20	chr5:177098200-177099600	Active TSS	Monocytes-CD14+_RO01746	blood
21	chr5:177098400-177099400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr5:177098400-177099400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:177098400-177099600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:177098400-177099600	Active TSS	Adipose Nuclei	Adipose
25	chr5:177098400-177099600	Active TSS	Dnd41	blood
26	chr5:177098800-177099800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:177099000-177099400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:177099000-177099400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:177099000-177099400	Active TSS	Aorta	Aorta
30	chr5:177099000-177099400	Active TSS	Esophagus	oesophagus
31	chr5:177099000-177099400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr5:177099000-177099400	Active TSS	Lung	lung
33	chr5:177099000-177099400	Active TSS	Right Atrium	heart
34	chr5:177099000-177099400	Active TSS	Right Ventricle	heart
35	chr5:177099000-177099400	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr5:177099000-177099400	Active TSS	Thymus	Thymus
37	chr5:177099000-177099400	Active TSS	Spleen	Spleen
38	chr5:177099000-177099400	Active TSS	HMEC	breast
39	chr5:177099000-177099600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:177099000-177099600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr5:177099000-177099600	Active TSS	Fetal Muscle Trunk	muscle
42	chr5:177099000-177099600	Active TSS	HepG2	liver
43	chr5:177099000-177099600	Active TSS	HUVEC	blood vessel
44	chr5:177099000-177099600	Active TSS	NH-A	brain
45	chr5:177099000-177099600	Active TSS	NHLF	lung
46	chr5:177099000-177099600	Active TSS	Osteobl	bone
47	chr5:177099000-177099800	Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr5:177099200-177099800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr5:177099200-177101000	Enhancers	Primary B cells from peripheral blood	blood

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